Linked Life Data

7977376

Source:http://linkedlifedata.com/resource/pubmed/id/7977376

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1994-12-27
pubmed:abstractText
Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was > .95 in the first two families and < .01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-13085199, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-13272341, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-1436057, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-15088544, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-1639389, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-2916582, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-3017841, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-5159359, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-5311627, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-7436378, http://linkedlifedata.com/resource/pubmed/commentcorrection/7977376-8220421
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
1166-72
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Genetic heterogeneity of familial hemiplegic migraine.
pubmed:affiliation
INSERM U25, Hôpital St. Antoine, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't